IthaID: 1388


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 125 CAA>GAA HGVS Name: HBD:c.376C>G
Hb Name: Hb A2-Zagreb Protein Info: δ 125(H3) Gln>Glu

Context nucleotide sequence:
CAACTTTGGCAAGGAATTCACCCCA [C/G] AAATGCAGGCTGCCTATCAGAAGGT (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPEMQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64584
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Yugoslavian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Juricic D, Crepinko I, Efremov GD, Lam H, Webber BB, Headlee MG, Huisman TH, Hb A2-Zagreb or alpha 2 delta 2(125)(H3)Gln replaced by Glu, a new delta chain variant in association with delta beta-thalassemia., Hemoglobin, 7(5), 443-8, 1983
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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